Canonical Allele Identifier: CA531977330

Gene: TMEM178A

Linked Data

• dbSNP Id: rs1553350752
• gnomAD v2: 2-39939225-T-TGTGTG
• gnomAD v3: 2-39712085-T-TGTGTG
• gnomAD v4: 2-39712085-T-TGTGTG
• MyVariant Identifiers: chr2:g.39939225_39939226insGTGTG (hg19) ; chr2:g.39712085_39712086insGTGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39712085_39712086insGTGTG , CM000664.2:g.39712085_39712086insGTGTG	GRCh38
NC_000002.11:g.39939225_39939226insGTGTG , CM000664.1:g.39939225_39939226insGTGTG	GRCh37
NC_000002.10:g.39792729_39792730insGTGTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281961.3:c.652+4899_652+4900insGTGTG MANE Select	ENSP00000281961.2:n.652+4899_652+4900insGTGTG
ENST00000281961.2:c.652+4899_652+4900insGTGTG	ENSP00000281961.2:n.652+4899_652+4900insGTGTG
ENST00000413011.5:n.371+4899_371+4900insGTGTG
ENST00000482239.5:n.395+4899_395+4900insGTGTG
ENST00000495402.1:n.431+4899_431+4900insGTGTG
ENST00000618232.1:c.*42-4925_*42-4924insGTGTG	ENSP00000477622.1:n.*42-4925_*42-4924insGTGTG
NM_001167959.1:c.106+4899_106+4900insGTGTG	NP_001161431.1:n.106+4899_106+4900insGTGTG
NM_152390.2:c.652+4899_652+4900insGTGTG	NP_689603.2:n.652+4899_652+4900insGTGTG
XM_005264144.1:c.515-4925_515-4924insGTGTG	XP_005264201.1:n.515-4925_515-4924insGTGTG
XM_005264145.1:c.401-4925_401-4924insGTGTG	XP_005264202.1:n.401-4925_401-4924insGTGTG
XM_017003369.1:c.*543_*544insGTGTG	XP_016858858.1:n.*543_*544insGTGTG
XM_017003370.2:c.106+4899_106+4900insGTGTG	XP_016858859.1:n.106+4899_106+4900insGTGTG
XM_017003371.1:c.106+4899_106+4900insGTGTG	XP_016858860.1:n.106+4899_106+4900insGTGTG
XM_024452702.1:c.401-23144_401-23143insGTGTG	XP_024308470.1:n.401-23144_401-23143insGTGTG
XM_024452703.1:c.106+4899_106+4900insGTGTG	XP_024308471.1:n.106+4899_106+4900insGTGTG
XM_024452704.1:c.106+4899_106+4900insGTGTG	XP_024308472.1:n.106+4899_106+4900insGTGTG
XM_024452705.1:c.106+4899_106+4900insGTGTG	XP_024308473.1:n.106+4899_106+4900insGTGTG
NM_152390.3:c.652+4899_652+4900insGTGTG MANE Select	NP_689603.2:n.652+4899_652+4900insGTGTG
NM_001167959.2:c.106+4899_106+4900insGTGTG	NP_001161431.1:n.106+4899_106+4900insGTGTG